My name is Meyre. My son, Orlando,
is 12 yrs old. Here in Brazil
it is very difficult to find rare disease support, especially from doctors, so
he has never gotten a formal diagnosis. Some doctors say he has Ataxic
Cerebral Palsy with some specific MSS signs. During the first seven years of
his life I was tireless in the search for answers. So, we did all genetic
tests that we could afford and we also sent his DNA for Sil1 testing but none
of them were positive. I am very grateful for the support we receive from
and especially for the help in getting the tests that were not available
Orlando was born in
May 2002 at 6:45 PM. It was a cold day with drizzles. I will never forget
that wonderful and blessed day. Nothing went wrong with his gestation and
birth (Cesarean delivery). He was so cute! He weighed 3.645 Kg and
was49 cm long. I am sure he was the most beautiful baby in that hospital J His apgar was 9 of 10 which was
really good! He continued to be in 100th percentile in height and weight his
first year. However, his height and weight started slowing after that causing
him to have lower and lower metrics for child development. He showed motor
delays when he was six months old, the same time that cataracts appeared in
both eyes. He required surgery to remove them when he was 10 and 11
months old. After that, when he was 2.5 years old he had another surgery to add
lenses – IOLs - and minimize his dependence on glasses. He started
walking at 20 months old after a lot of physiotherapy sessions. I talk a lot,
so he talks too. J He talks slowly but very well and
in this part he was considered above average for child development. He
always walked on tiptoe due to spastic gait and had poor balance what made
him fall easily and frequently, but he always got up and walked happily.
I talked with doctors abroad by email and
I got good information from them. We tried to push local doctors to be
more proactive but, in fact, all we found out was by ourselves and required
personal dedication, observation and study. Orlando continues to have physical therapy
and swimming class. He also has speech, occupational therapy, and hippotherapy. Since last year, he has a teacher
that helps him at home with literacy.
We had two MRI which showed his
cerebellum was underdeveloped. He was diagnosed with ataxic CP but with some
potential to be MSS. He did some genetic tests to check for ataxic syndromes,
CTX (Xantomatose Cerebrotendinosa)
and Sil 1 mutation. All the tests results were
negative. In 2011 our doctor suggested genetic mapping, but we decided to stop
spending money with that and redirect this budget to his future mainly because
the tests are too expensive and are unlikely to improve his health.
Orlando learns slowly
and has much difficulty with written language (Portuguese, English, etc.) and
mathematics. He is not literate yet but he can read small words and can copy
words too. However, his verbal skills are very good and help him in learning.
He learns a lot about history, science and geography if they are taught
making him use his imagination. We’ve tried regular and special school.
We chose the regular school with constructivist methodology (learning occurs
best when the learner is actively involved). It is not easy to define the
best school so my experience says: “don’t worry and try available
methods to find the best one for your child”.
This year Orlando developed secondary glaucoma and
lost ~ 70% of his vision in his left eye, but right is perfect! Due to
surgery he had to stay at home and ended up losing muscle mass in the legs
which worsened his walk and position of feet. In face of that, he needs to
use orthosis, a walker and a wheelchair only for
long distances. We are still working with physical therapy and electrical
stimulation (FES) in order to recover.
According to doctors, secondary glaucoma can occur when people had cataracts.
I would rate Orlando’s symptoms as low in speech,
mild in fine motor and cognitive, and more severe in balance, literacy and
walking skills. He loves riding horses, talking with friends, playing Minecraft, and swimming. Most important, he is really
happy which shows we are doing a good job! Our biggest concern right
now is the position of his foot and literacy difficulty. We currently live in
a kind of small farm (since last year) with horse, chicken, dogs, all nature,
São Paulo, Jundiaí, Brazil. He is in love with this
new place we are living.